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SARDH Gene

protein-coding   GIFtS: 59
GCID: GC09M136528

Sarcosine Dehydrogenase


(Previous symbol: DMGDHL1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sarcosine Dehydrogenase1 2     SDH2
DMGDHL11 2 3     Dimethylglycine Dehydrogenase-Like 12
BPR-22 3     Sarcosine Dehydrogenase, Mitochondrial2
SAR2 5     EC 1.5.8.33
SARD2 5     SarDH3

External Ids:    HGNC: 105361   Entrez Gene: 17572   Ensembl: ENSG000001234537   OMIM: 6044555   UniProtKB: Q9UL123   

Export aliases for SARDH gene to outside databases

Previous GC identifers: GC09M127604 GC09P128054 GC09M129954 GC09M131870 GC09M133558 GC09M135518 GC09M106029


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SARDH Gene:
This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of
sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which
catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with
sarcosinemia. Alternatively spliced transcript variants have been described. (provided by RefSeq, Oct 2008)

GeneCards Summary for SARDH Gene:
SARDH (sarcosine dehydrogenase) is a protein-coding gene. Diseases associated with SARDH include sarcosinemia, and dimethylglycine dehydrogenase deficiency. GO annotations related to this gene include sarcosine dehydrogenase activity and aminomethyltransferase activity. An important paralog of this gene is PDPR.

Gene Wiki entry for SARDH Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SARDH gene promoter:
         N-Myc   Zic1   NF-kappaB   Tal-1beta   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SARDH promoter sequence
   Search Chromatin IP Primers for SARDH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SARDH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q33-q34   Ensembl cytogenetic band:  9q34.2   HGNC cytogenetic band: 9q33-q34

SARDH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SARDH gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M136528:  view genomic region     (about GC identifiers)

Start:
136,528,682 bp from pter      End:
136,605,077 bp from pter
Size:
76,396 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SARDH_HUMAN, Q9UL12 (See protein sequence)
Recommended Name: Sarcosine dehydrogenase, mitochondrial precursor  
Size: 918 amino acids; 101037 Da
Cofactor: Binds 1 FAD covalently per monomer (By similarity)
Sequence caution: Sequence=AAD33412.1; Type=Frameshift; Positions=867;
Secondary accessions: B2RMR5 B7ZLT6 Q5SYV0 Q9Y280 Q9Y2Y3

Explore the universe of human proteins at neXtProt for SARDH: NX_Q9UL12

Explore proteomics data for SARDH at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys713, Lys757, Lys884
  • Modification sites at PhosphoSitePlus

  • See SARDH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001128179.1  NP_009032.2  

    ENSEMBL proteins: 
     ENSP00000360938   ENSP00000360934   ENSP00000394210   ENSP00000360933   ENSP00000403084  
     ENSP00000415537   ENSP00000298628  

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    Cloud-Clone Corp. CLIAs for SARDH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR006076 FAD-dep_OxRdtase
     IPR006222 GCV_T_N
     IPR027266 TrmE/GcvT_dom1
     IPR013977 GCV_T_C

    Graphical View of Domain Structure for InterPro Entry Q9UL12

    ProtoNet protein and cluster: Q9UL12

    1 Blocks protein domain: IPB006222 Glycine cleavage T protein (aminomethyl transferase)

    UniProtKB/Swiss-Prot: SARDH_HUMAN, Q9UL12
    Similarity: Belongs to the GcvT family


    SARDH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SARDH_HUMAN, Q9UL12
    Catalytic activity: Sarcosine + H(2)O + electron-transfer flavoprotein = glycine + formaldehyde + reduced
    electron-transfer flavoprotein

         Genatlas biochemistry entry for SARDH:
    sarcosine dehydrogenase,catalyzing qlycine synthesis,"one-carbone" metabolism,liver motochondrial flavoenzyme

         Enzyme Number (IUBMB): EC 1.5.8.31

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004047aminomethyltransferase activity IEA--
    GO:0008480sarcosine dehydrogenase activity IEA--
    GO:0016491oxidoreductase activity ----
         
    SARDH for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SARDH
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SARDH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SARDH

    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SARDH

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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SARDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SARDH

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SARDH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SARDH_HUMAN, Q9UL12: Mitochondrion matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol2
    peroxisome2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion ISS--
    GO:0005759mitochondrial matrix IEA--

    SARDH for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SARDH About    
    See pathways by source

    SuperPathContained pathways About
    1Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism
    glycine betaine degradation0.00
    2Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SARDH
        glycine betaine degradation


    2 Kegg Pathways  (Kegg details for SARDH):
        Glycine, serine and threonine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: SARDH_HUMAN, Q9UL12
    Pathway: Amine and polyamine degradation; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1


    SARDH for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SARDH: 

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SARDH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for SARDH (ENSP000003609384) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGXTENSP000003026204STRING: ENSP00000302620
    AGXT2ENSP000002314204STRING: ENSP00000231420
    BHMTENSP000002743534STRING: ENSP00000274353
    BHMT2ENSP000002551924STRING: ENSP00000255192
    DAOENSP000002284764STRING: ENSP00000228476
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006546glycine catabolic process IEA--
    GO:0008150biological_process ----
    GO:0055114oxidation-reduction process ----

    SARDH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SARDH

    Selected HMDB Compounds for SARDH (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    FormaldehydeAldeide formica (see all 16)50-00-0--
    Glycine2-Aminoacetate (see all 15)56-40-6--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--
    NorspermidineN-(3-aminopropyl)-1,3-Propanediamine (see all 28)56-18-8--
    Putrescine1,4-Butanediamine (see all 8)110-60-1--
    Sarcosine(Methylamino)acetate (see all 15)107-97-1--
    Spermidine1,5,10-Triazadecane (see all 15)124-20-9--
    Spermine1,5,10,14-Tetraazatetradecane (see all 18)71-44-3--

    9 Novoseek inferred chemical compound relationships for SARDH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sarcosine 93.9 35 10444331 (4), 9528896 (2), 1700744 (1), 1372986 (1) (see all 17)
    dimethylglycine 90 5 10444331 (1), 9528896 (1), 11122247 (1), 14744856 (1) (see all 5)
    mannitol 55.2 7 15658461 (1), 8753449 (1), 10503458 (1), 11954740 (1) (see all 7)
    n-ethyl-n-nitrosourea 52.7 1 8812433 (1)
    flavin 51.6 1 15069080 (1)
    succinate 27.5 2 9528896 (1), 10448053 (1)
    folate 14.6 2 10767172 (1)
    creatinine 13.7 2 10448053 (1), 20347908 (1)
    lactate 0 1 8621045 (1)



    SARDH for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SARDH gene (2 alternative transcripts): 
    NM_001134707.1  NM_007101.3  

    Unigene Cluster for SARDH:

    Sarcosine dehydrogenase
    Hs.198003  [show with all ESTs]
    Unigene Representative Sequence: NM_007101
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371872(uc004ceo.3 uc011mdo.2 uc011mdn.2) ENST00000371868(uc004cen.3)
    ENST00000469828 ENST00000427237 ENST00000371867 ENST00000439388(uc004cep.4)
    ENST00000422262 ENST00000298628
    miRNA
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): SARDH (NM_007101)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SARDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SARDH
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      QuantiFast Probe-based Assays in human, mouse, rat SARDH

    Additional mRNA sequence: 

    AB073898.1 AF047004.1 AF047190.1 AF095735.2 AF095736.2 AF095737.2 AF129265.1 AF129266.1 
    AF162428.1 AJ223317.1 AK093794.1 AK223402.1 AK291211.1 AK298348.1 AK316494.1 BC033217.1 
    BC041574.1 BC136363.1 BC136364.1 BC144035.1 

    12 DOTS entries:

    DT.40198284  DT.95157356  DT.100777178  DT.95157357  DT.100668990  DT.91787189  DT.100777179  DT.95157355 
    DT.101969589  DT.121145033  DT.121145085  DT.121145087 

    Selected AceView cDNA sequences (see all 65):

    BE207913 CR602119 AF095736 CB136701 CR593278 AF095735 AL602561 BE294520 
    NM_007101 CR597974 BU500834 BX283767 AJ223317 AF129265 AI566543 BE019111 
    AF095737 AF162428 AV652939 AK093794 BP357983 BE293990 AI823391 BC041574 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SARDH    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                                                    -                                       
    SP2:                                                                                                            
    SP3:                                                                                                            
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for SARDH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SARDH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTGTAGCC
    SARDH Expression
    About this image


    SARDH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    SARDH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SARDH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.198003
        Pathway & Disease-focused RT2 Profiler PCR Array including SARDH: 
              Amino Acid Metabolism II in human mouse rat

    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SARDH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SARDH gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sardh1 , 5 sarcosine dehydrogenase1, 5 85.26(n)1
    88.67(a)1
      2 (19.31 cM)5
    1921661  NM_138665.21  NP_619606.11 
     271883935 
    chicken
    (Gallus gallus)
    Aves SARDH1 sarcosine dehydrogenase 77.36(n)
    81.71(a)
      417146  XM_004945955.1  XP_004946012.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    81(a)
    73(a)
    1 ↔ many
    1 ↔ many
    GL344411.1(32212-38763)
    GL343736.1(220826-271553)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.126822 Xenopus laevis transcribed sequence with weak similarity more 73.67(n)    BJ072373.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563632 similar to sarcosine dehydrogenase 76.73(n)   394103  BC051605.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG63851 , 3 sarcosine dehydrogenase3
    CG63851
    50(a)
    (best of 2)3
    56.73(n)1
    52.16(a)1
      54E83
    370261  NM_137419.21  NP_611263.11 


    ENSEMBL Gene Tree for SARDH (if available)
    TreeFam Gene Tree for SARDH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SARDH gene
    PDPR2  DMGDH2  
    4 SIMAP similar genes for SARDH using alignment to 8 protein entries:     SARDH_HUMAN (see all proteins):
    C3orf64    DSERG1    PDPR    DMGDH

    SARDH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SARDH (see all 2187)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1494811471,2,,4
    C,FSarcosinemia (SARCOS)4 --136610854(+) CCAGCG/AGGACC 4 /P /L mis12Minor allele frequency- A:0.00NA EU 5811
    VAR_0692724
    Sarcosinemia (SARCOS)4--see VAR_0692722 V F mis40--------
    rs1907597061,2
    --136533553(+) TCACCC/TTCCCT 2 -- int10--------
    rs1175962351,2
    F--136533565(+) TCCCTT/CACCCT 2 -- int11Minor allele frequency- C:0.21EA 120
    rs1462431461,2
    --136533569(+) TTACCC/TTCCCT 2 -- int10--------
    rs3741007031,2
    C--136533576(+) CCTCT-/CCCCTC 2 -- int10--------
    rs1926007971,2
    --136533599(+) CCCTCA/GCCCTC 2 -- int10--------
    rs1115895901,2
    C--136533623(+) CCTCAC/TCCTCC 2 -- int10--------
    rs1840948071,2
    C--136544286(+) AGACAA/CAGGTC 2 -- int10--------
    rs1885899681,2
    --136544291(+) AAGGTC/TACCTA 2 -- int10--------

    HapMap Linkage Disequilibrium report for SARDH (136528682 - 136605077 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SARDH (see all 36):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739174CNV Deletion23290073
    esv2739177CNV Deletion23290073
    esv2739171CNV Deletion23290073
    esv2659744CNV Deletion23128226
    esv4163CNV Deletion18987735
    esv2739172CNV Deletion23290073
    esv998446CNV Deletion20482838
    esv2739176CNV Deletion23290073
    esv2739178CNV Deletion23290073
    esv2739175CNV Deletion23290073

    Human Gene Mutation Database (HGMD): SARDH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SARDH
    DNA2.0 Custom Variant and Variant Library Synthesis for SARDH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604455   
    OMIM disorders: 268900  
    UniProtKB/Swiss-Prot: SARDH_HUMAN, Q9UL12
  • Sarcosinemia (SARCOS) [MIM:268900]: A metabolic disorder characterized by an increased concentration of
    sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign
    condition without significant clinical problems. Some reports have associated sarcosinemia with mental
    retardation and neurologic problems. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 14 diseases for SARDH:    
    About MalaCards
    sarcosinemia    dimethylglycine dehydrogenase deficiency    myocarditis    pharyngitis
    dilated cardiomyopathy    spina bifida    primary biliary cirrhosis    laryngitis
    prostate cancer    prostatitis    hepatocellular carcinoma    multiple myeloma
    myeloma    malaria


    SARDH for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for SARDH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sarcosinemia 96.4 5 10444331 (3), 8812433 (1), 10876657 (1)
    myocarditis 42.9 1 9528896 (1)
    dilated cardiomyopathy 24.9 1 9528896 (1)

    Genatlas disease: SARDH
    sarcosinemia

    Genetic Association Database (GAD): SARDH
    Human Genome Epidemiology (HuGE) Navigator: SARDH (2 documents)

    Export disorders for SARDH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for SARDH gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with SARDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. (PubMed id 10444331)1, 2, 3, 9 Eschenbrenner M. and Jorns M.S. (Genomics 1999)
    2. Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. (PubMed id 22825317)1, 2 Bar-joseph I.... Anikster Y. (Hum. Genet. 2012)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PubMed id 19161160)1, 4 Franke B....Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009)
    5. Physical and cDNA mapping in the DBH region of human chromosome 9q34. (PubMed id 10686491)1, 2 Gilbert J.R.... Pericak-Vance M.A. (Hum. Hered. 2000)
    6. TMEFF2 and SARDH cooperate to modulate one-carbon metabolism and invasion of prostate cancer cells. (PubMed id 23824605)1 Green T....Ruiz-EchevarrA-a M.J. (Prostate 2013)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. (PubMed id 17903295)4 Lunetta K.L....Murabito J.M. (BMC Med. Genet. 2007)
    9. Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction. (PubMed id 17693683)2 Tang L.-Y.... Zeng R. (Mol. Cell. Proteomics 2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1757 HGNC: 10536 AceView: SARDH Ensembl:ENSG00000123453 euGenes: HUgn1757
    ECgene: SARDH Kegg: 1757 H-InvDB: SARDH

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SARDH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for SARDH gene:
    Search GeneIP for patents involving SARDH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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